InnateDB Protein
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IDBP-383694.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CNBP
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Protein Name
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CCHC-type zinc finger, nucleic acid binding protein
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Synonyms
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CNBP1; DM2; PROMM; RNF163; ZCCHC22; ZNF9;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000400444
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InnateDB Gene
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IDBG-55569 (CNBP)
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Protein Structure
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Function |
Single-stranded DNA-binding protein, with specificity to the sterol regulatory element (SRE). Involved in sterol-mediated repression.
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Subcellular Localization |
Cytoplasm {ECO:0000250}. Endoplasmic reticulum {ECO:0000250}.
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Disease Associations |
Dystrophia myotonica 2 (DM2) [MIM:602668]: A multisystem disease characterized by the association of proximal muscle weakness with myotonia, cardiac manifestations and cataract. Additional features can include hyperhidrosis, testicular atrophy, insulin resistance and diabetes and central nervous system anomalies in rare cases. Note=The disease is caused by mutations affecting the gene represented in this entry. The causative mutation is a CCTG expansion (mean approximately 5000 repeats) located in intron 1 of the CNBP gene.
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Tissue Specificity |
Present in all tissues examined.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 50 experimentally validated interaction(s) in this database.
Experimentally validated |
Total |
50
[view]
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Protein-Protein |
48
[view]
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Protein-DNA |
2
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Molecular Function |
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Biological Process |
GO:0006351
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transcription, DNA-templated
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GO:0006355
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regulation of transcription, DNA-templated
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GO:0006695
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cholesterol biosynthetic process
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GO:0008284
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positive regulation of cell proliferation
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0045944
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positive regulation of transcription from RNA polymerase II promoter
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Cellular Component |
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PDB ID |
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InterPro |
IPR001878
Zinc finger, CCHC-type
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PFAM |
PF00098
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PRINTS |
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PIRSF |
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SMART |
SM00343
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TIGRFAMs |
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Modification |
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SwissProt |
P62633
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PhosphoSite |
PhosphoSite-P62633
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TrEMBL |
Q6T598
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UniProt Splice Variant |
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Entrez Gene |
7555
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UniGene |
Hs.518249
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RefSeq |
NP_001120667
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HUGO |
HGNC:13164
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OMIM |
116955
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CCDS |
CCDS46908
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HPRD |
00311
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IMGT |
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EMBL |
AC108673
AC135587
AK054592
AK292119
AK298154
AK314380
AY329622
AY436367
BC000288
BC014911
BC093058
BT019613
CH471052
DQ091187
DQ092366
DQ092367
M28372
U19765
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GenPept |
AAA61975
AAA91782
AAH00288
AAH14911
AAH93058
AAR11855
AAR89462
AAV38419
AAY89856
AAY96754
AAY96755
BAB70769
BAF84808
BAG37006
BAG60429
EAW79271
EAW79272
EAW79273
EAW79274
EAW79275
EAW79277
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